CFAP410 — 418 ClinVar variants
All ClinVar germline CFAP410 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 152 flagged for review →
29 Pathogenic · 8 Pathogenic/Likely pathogenic · 8 Likely pathogenic · 8 Conflicting · 33 Benign · 1 Benign/Likely benign · 158 Likely benign · 173 Uncertain significance
Full CFAP410 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 152
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors agree, ClinVar conflicts 3
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
- CFAP410 p.Ala255Thr Conflicting Single submitter
-
CFAP410 p.Cys25Arg
Conflicting
Single submitter
retinal dystrophy with or without macular staphyloma
- CFAP410 p.Gly190Val Conflicting Single submitter
Predictors lean, ClinVar uncertain 68
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
CFAP410 p.Arg70Gln
Uncertain significance
Multiple submitters
inherited retinal dystrophy
-
CFAP410 p.Arg90Pro
Uncertain significance
Multiple submitters
inherited retinal dystrophy
-
CFAP410 p.Leu47Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CFAP410 p.Pro98Leu
Uncertain significance
Multiple submitters
retinal dystrophy with or without macular staphyloma
- CFAP410 p.Trp26Arg Uncertain significance Multiple submitters
- CFAP410 p.Ala125Pro Uncertain significance Single submitter
- CFAP410 p.Ala143Val Uncertain significance Single submitter
- CFAP410 p.Ala185Thr Uncertain significance Single submitter
- CFAP410 p.Ala219Pro Uncertain significance Single submitter
- CFAP410 p.Ala234Thr Uncertain significance Single submitter
-
CFAP410 p.Arg108His
Uncertain significance
Single submitter
inherited retinal dystrophy
- CFAP410 p.Arg172Gln Uncertain significance Single submitter
- CFAP410 p.Arg189His Uncertain significance Single submitter
- CFAP410 p.Arg196Gln Uncertain significance Single submitter
- CFAP410 p.Arg225Gln Uncertain significance Single submitter
- CFAP410 p.Arg29His Uncertain significance Single submitter
- CFAP410 p.Arg5Gln Uncertain significance Single submitter
- CFAP410 p.Arg60Gly Uncertain significance Single submitter
- CFAP410 p.Arg63His Uncertain significance Single submitter
- CFAP410 p.Arg88His Uncertain significance Single submitter
- CFAP410 p.Arg90Gln Uncertain significance Single submitter
-
CFAP410 p.Asn97Lys
Uncertain significance
Single submitter
retinal dystrophy with or without macular staphyloma
-
CFAP410 p.Asp122Asn
Uncertain significance
Single submitter
cone-rod dystrophy
- CFAP410 p.Asp122His Uncertain significance Single submitter
- CFAP410 p.Asp173Asn Uncertain significance Single submitter
- CFAP410 p.Asp206Asn Uncertain significance Single submitter
- CFAP410 p.Asp206Val Uncertain significance Single submitter
- CFAP410 p.Cys100Arg Uncertain significance Single submitter
- CFAP410 p.Cys100Tyr Uncertain significance Single submitter
- CFAP410 p.Cys61Gly Uncertain significance Single submitter
-
CFAP410 p.Cys61Tyr
Uncertain significance
Single submitter
retinal dystrophy with or without macular staphyloma
- CFAP410 p.Gln237His Uncertain significance Single submitter
- CFAP410 p.Glu146Gln Uncertain significance Single submitter
- CFAP410 p.Glu146Lys Uncertain significance Single submitter
- CFAP410 p.Glu148Asp Uncertain significance Single submitter
- CFAP410 p.Glu179Asp Uncertain significance Single submitter
- CFAP410 p.Glu180Ala Uncertain significance Single submitter
- CFAP410 p.Glu256Lys Uncertain significance Single submitter
- CFAP410 p.Gly149Ser Uncertain significance Single submitter
- CFAP410 p.Gly154Arg Uncertain significance Single submitter
- CFAP410 p.Gly184Ser Uncertain significance Single submitter
- CFAP410 p.Gly197Ser Uncertain significance Single submitter
- CFAP410 p.Gly27Ser Uncertain significance Single submitter
- CFAP410 p.Gly85Arg Uncertain significance Single submitter
- CFAP410 p.His254Arg Uncertain significance Single submitter
- CFAP410 p.Ile33Thr Uncertain significance Single submitter
- CFAP410 p.Ile33Val Uncertain significance Single submitter
- CFAP410 p.Leu164Pro Uncertain significance Single submitter
- CFAP410 p.Leu175Pro Uncertain significance Single submitter
- CFAP410 p.Leu217Pro Uncertain significance Single submitter
-
CFAP410 p.Leu47Pro
Uncertain significance
Single submitter
cone-rod dystrophy
- CFAP410 p.Leu80Val Uncertain significance Single submitter
- CFAP410 p.Leu9Pro Uncertain significance Single submitter
- CFAP410 p.Lys13Arg Uncertain significance Single submitter
- CFAP410 p.Lys156Arg Uncertain significance Single submitter
- CFAP410 p.Met39Arg Uncertain significance Single submitter
- CFAP410 p.Pro155His Uncertain significance Single submitter
- CFAP410 p.Pro193Leu Uncertain significance Single submitter
- CFAP410 p.Ser136Arg Uncertain significance Single submitter
-
CFAP410 p.Ser19Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- CFAP410 p.Thr170Ala Uncertain significance Single submitter
- CFAP410 p.Thr238Ser Uncertain significance Single submitter
- CFAP410 p.Trp93Arg Uncertain significance Single submitter
- CFAP410 p.Val216Ile Uncertain significance Single submitter
- CFAP410 p.Val251Gly Uncertain significance Single submitter
- CFAP410 p.Val8Phe Uncertain significance Single submitter
-
CFAP410 p.Gly151Asp
Uncertain significance
No assertion criteria
CFAP410-related disorder
-
CFAP410 p.Gly27Val
Uncertain significance
No assertion criteria
inherited retinal dystrophy
Predictors split 81
The independent predictors disagree with each other — read with care.
-
CFAP410 p.Arg106Cys
Uncertain significance
Multiple submitters
CFAP410-related disorder
-
CFAP410 p.Arg189Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
- CFAP410 p.Arg212Lys Benign Multiple submitters
- CFAP410 p.Arg242Trp Uncertain significance Multiple submitters
-
CFAP410 p.Arg73Pro
Pathogenic/Likely pathogenic
Multiple submitters
axial spondylometaphyseal dysplasia
-
CFAP410 p.Glu178Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CFAP410 p.Glu96Lys
Pathogenic/Likely pathogenic
Multiple submitters
retinal dystrophy with or without macular staphyloma
-
CFAP410 p.Thr127Met
Uncertain significance
Multiple submitters
retinal dystrophy with or without macular staphyloma
- CFAP410 p.Thr150Ile Benign Multiple submitters
- CFAP410 p.Thr182Ile Uncertain significance Multiple submitters
- CFAP410 p.Val20Met Uncertain significance Multiple submitters
- CFAP410 p.Ala78Pro Uncertain significance Single submitter
-
CFAP410 p.Arg106His
Uncertain significance
Single submitter
inherited retinal dystrophy
- CFAP410 p.Arg113Cys Uncertain significance Single submitter
- CFAP410 p.Arg113His Uncertain significance Single submitter
- CFAP410 p.Arg117Cys Uncertain significance Single submitter
- CFAP410 p.Arg11Trp Uncertain significance Single submitter
- CFAP410 p.Arg133Cys Uncertain significance Single submitter
- CFAP410 p.Arg133His Uncertain significance Single submitter
- CFAP410 p.Arg172Trp Likely benign Single submitter
- CFAP410 p.Arg196Trp Uncertain significance Single submitter
- CFAP410 p.Arg21His Uncertain significance Single submitter
- CFAP410 p.Arg225Trp Uncertain significance Single submitter
- CFAP410 p.Arg242Gln Uncertain significance Single submitter
- CFAP410 p.Arg247Cys Uncertain significance Single submitter
- CFAP410 p.Arg247His Benign Single submitter
- CFAP410 p.Arg247Leu Uncertain significance Single submitter
- CFAP410 p.Arg29Cys Uncertain significance Single submitter
- CFAP410 p.Arg5Trp Uncertain significance Single submitter
- CFAP410 p.Arg60Gln Uncertain significance Single submitter
- CFAP410 p.Arg60Trp Uncertain significance Single submitter
- CFAP410 p.Arg63Cys Uncertain significance Single submitter
- CFAP410 p.Arg73Cys Uncertain significance Single submitter
- CFAP410 p.Arg73Gly Uncertain significance Single submitter
- CFAP410 p.Arg73His Uncertain significance Single submitter
- CFAP410 p.Arg88Cys Uncertain significance Single submitter
- CFAP410 p.Arg90Trp Uncertain significance Single submitter
- CFAP410 p.Cys36Tyr Uncertain significance Single submitter
- CFAP410 p.Gln237Pro Uncertain significance Single submitter
- CFAP410 p.Glu128Asp Uncertain significance Single submitter
- CFAP410 p.Glu148Gln Uncertain significance Single submitter
- CFAP410 p.Glu148Lys Uncertain significance Single submitter
- CFAP410 p.Glu169Lys Likely benign Single submitter
- CFAP410 p.Glu16Lys Uncertain significance Single submitter
-
CFAP410 p.Glu188Lys
Uncertain significance
Single submitter
inherited retinal dystrophy
- CFAP410 p.Glu233Gly Uncertain significance Single submitter
- CFAP410 p.Glu38Gln Uncertain significance Single submitter
- CFAP410 p.Glu96Gln Uncertain significance Single submitter
- CFAP410 p.Gly101Ser Uncertain significance Single submitter
- CFAP410 p.Gly138Arg Uncertain significance Single submitter
- CFAP410 p.Gly151Cys Uncertain significance Single submitter
- CFAP410 p.Leu115Val Uncertain significance Single submitter
- CFAP410 p.Leu135Pro Uncertain significance Single submitter
- CFAP410 p.Leu17Pro Uncertain significance Single submitter
- CFAP410 p.Lys22Asn Uncertain significance Single submitter
- CFAP410 p.Lys2Asn Uncertain significance Single submitter
- CFAP410 p.Met39Thr Uncertain significance Single submitter
- CFAP410 p.Met7Ile Uncertain significance Single submitter
- CFAP410 p.Met7Thr Uncertain significance Single submitter
- CFAP410 p.Pro40Leu Uncertain significance Single submitter
- CFAP410 p.Pro57Ser Uncertain significance Single submitter
- CFAP410 p.Pro75Arg Uncertain significance Single submitter
-
CFAP410 p.Pro75Leu
Uncertain significance
Single submitter
inherited retinal dystrophy
- CFAP410 p.Pro87Leu Uncertain significance Single submitter
- CFAP410 p.Ser132Phe Uncertain significance Single submitter
- CFAP410 p.Ser166Phe Uncertain significance Single submitter
- CFAP410 p.Ser201Cys Uncertain significance Single submitter
- CFAP410 p.Ser41Arg Uncertain significance Single submitter
-
CFAP410 p.Ser65Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- CFAP410 p.Thr127Ala Uncertain significance Single submitter
- CFAP410 p.Thr182Asn Uncertain significance Single submitter
- CFAP410 p.Thr238Ile Uncertain significance Single submitter
-
CFAP410 p.Thr46Met
Conflicting
Single submitter
inherited retinal dystrophy
- CFAP410 p.Thr4Ala Uncertain significance Single submitter
- CFAP410 p.Trp93Cys Uncertain significance Single submitter
- CFAP410 p.Tyr82His Uncertain significance Single submitter
- CFAP410 p.Tyr82Phe Uncertain significance Single submitter
- CFAP410 p.Val20Leu Uncertain significance Single submitter
- CFAP410 p.Val235Met Uncertain significance Single submitter
- CFAP410 p.Val49Ile Uncertain significance Single submitter
-
CFAP410 p.Ser210Asn
Uncertain significance
No assertion criteria
inherited retinal dystrophy
All CFAP410 variants
Pathogenic 29
- c.642+2T>C Multiple submitters axial spondylometaphyseal dysplasia
- c.643-1G>C Multiple submitters axial spondylometaphyseal dysplasia
- c.96+1G>A Multiple submitters retinal dystrophy with or without macular staphyloma
- p.Ala12fs Multiple submitters axial spondylometaphyseal dysplasia
- p.Gln119Ter Multiple submitters retinal dystrophy with or without macular staphyloma
- p.Glu16Ter Multiple submitters axial spondylometaphyseal dysplasia
- p.Val111Met Multiple submitters inherited retinal dystrophy
- c.144-6_159del Single submitter retinal dystrophy with or without macular staphyloma
- c.545+1G>A Single submitter axial spondylometaphyseal dysplasia
- c.545+1G>C Single submitter
- p.Asp176fs Single submitter
- p.Gln62delinsArgSerLeuTer Single submitter
- p.Glu128fs Single submitter
- p.Glu146fs Single submitter retinal dystrophy with or without macular staphyloma
- p.Glu96fs Single submitter
- p.Leu135fs Single submitter
- p.Pro57fs Single submitter
- p.Ser162fs Single submitter
- p.Ser177fs Single submitter
- p.Ser59fs Single submitter
- p.Ser65fs Single submitter
- p.Trp26Ter Single submitter cone-rod dystrophy
- p.Trp93Ter Single submitter
- p.Tyr107His Single submitter retinal dystrophy with or without macular staphyloma
- p.Val20fs Single submitter
- c.643-2A>G No assertion criteria Leber congenital amaurosis
- p.Ile35fs No assertion criteria axial spondylometaphyseal dysplasia
- p.Leu224Pro No assertion criteria axial spondylometaphyseal dysplasia
- p.Tyr107Cys No assertion criteria retinal dystrophy with or without macular staphyloma
Pathogenic/Likely pathogenic 8
- c.643-23A>T Multiple submitters axial spondylometaphyseal dysplasia
- c.96+1G>T Multiple submitters inherited retinal dystrophy
- p.Arg73Pro Multiple submitters axial spondylometaphyseal dysplasia ⚠
- p.Glu148fs Multiple submitters retinal dystrophy with or without macular staphyloma
- p.Glu96Lys Multiple submitters retinal dystrophy with or without macular staphyloma ⚠
- p.Pro116Leu Multiple submitters retinal dystrophy with or without macular staphyloma
- p.Ser165fs Multiple submitters Autosomal recessive CFAP410-related disorders
- p.Thr114_Arg117dup Multiple submitters retinal dystrophy with or without macular staphyloma
Likely pathogenic 8
- c.373+91A>G Single submitter retinal dystrophy with or without macular staphyloma
- c.77+2T>C Single submitter axial spondylometaphyseal dysplasia
- c.78-1G>T Single submitter retinal dystrophy with or without macular staphyloma
- c.78-2del Single submitter
- c.97-1G>A Single submitter
- p.Glu130del Single submitter retinal dystrophy with or without macular staphyloma
- p.Thr182fs Single submitter retinal dystrophy with or without macular staphyloma
- p.Leu64Gln No assertion criteria inherited retinal dystrophy
Conflicting classifications of pathogenicity 8
- c.143+3A>T Single submitter retinal dystrophy with or without macular staphyloma
- c.96+4del Single submitter
- c.96+6T>A Single submitter inherited retinal dystrophy
- p.Ala255Thr Single submitter ⚠
- p.Cys25Arg Single submitter retinal dystrophy with or without macular staphyloma ⚠
- p.Gly190Val Single submitter ⚠
- p.Leu112_Leu115del Single submitter retinitis pigmentosa
- p.Thr46Met Single submitter inherited retinal dystrophy ⚠
Benign 33
- c.144-123A>G Multiple submitters
- c.144-129C>T Multiple submitters
- c.144-158A>G Multiple submitters
- c.373+231G>C Multiple submitters
- c.374-183G>T Multiple submitters
- c.642+9C>T Multiple submitters
- c.643-137G>T Multiple submitters
- c.643-39C>T Multiple submitters
- c.77+35G>T Multiple submitters
- c.77+92A>C Multiple submitters
- c.78-81C>T Multiple submitters
- c.96+172A>G Multiple submitters
- c.97-121C>T Multiple submitters
- c.-120C>G Multiple submitters
- c.*135G>A Multiple submitters
- c.*33G>A Multiple submitters
- p.Arg117His Multiple submitters
- p.Arg212Lys Multiple submitters ⚠
- p.Asp228= Multiple submitters
- p.Gln236Arg Multiple submitters
- p.Gly153Ser Multiple submitters
- p.Thr150Ile Multiple submitters ⚠
- p.Val58Leu Multiple submitters
- c.373+10C>T Single submitter
- c.374-16_374-13del Single submitter
- c.545+111_545+112del Single submitter
- c.97-83_97-65del Single submitter
- c.*30C>T Single submitter
- p.Arg196= Single submitter
- p.Arg247His Single submitter ⚠
- p.Ser208Leu Single submitter
- p.Thr127= Single submitter
- p.Thr46= Single submitter
Benign/Likely benign 1
- p.Gly154Ser Multiple submitters
Likely benign 158
- c.642+15G>A Multiple submitters
- p.Ala143= Multiple submitters
- p.Gly184= Multiple submitters
- p.His152= Multiple submitters
- p.His254= Multiple submitters
- p.Leu3= Multiple submitters
- p.Leu92= Multiple submitters
- c.143+17G>A Single submitter
- c.143+18T>C Single submitter
- c.143+7C>T Single submitter
- c.143+8G>A Single submitter
- c.144-17T>C Single submitter
- c.144-18G>C Single submitter
- c.144-6G>A Single submitter
- c.144-7C>T Single submitter
- c.144-8C>T Single submitter
- c.373+11G>A Single submitter
- c.373+15C>A Single submitter
- c.373+15C>T Single submitter
- c.373+16G>A Single submitter
- c.373+7G>A Single submitter
- c.373+8G>T Single submitter
- c.374-14C>A Single submitter
- c.374-14C>T Single submitter
- c.374-7C>A Single submitter
- c.545+16A>G Single submitter
- c.545+18C>T Single submitter
- c.545+19G>A Single submitter
- c.545+20G>A Single submitter
- c.546-17C>T Single submitter
- c.546-19G>A Single submitter
- c.546-20C>T Single submitter
- c.546-4_546-3del Single submitter
- c.546-6T>G Single submitter
- c.546-8C>T Single submitter
- c.642+10G>A Single submitter
- c.642+14C>T Single submitter
- c.642+18A>C Single submitter
- c.642+19G>T Single submitter
- c.642+8G>A Single submitter
- c.642+8G>C Single submitter
- c.642+8G>T Single submitter
- c.643-12C>T Single submitter
- c.643-14C>G Single submitter
- c.643-14C>T Single submitter
- c.643-18G>A Single submitter
- c.643-19C>T Single submitter
- c.643-235G>A Single submitter
- c.643-7C>T Single submitter
- c.77+11G>A Single submitter
- c.77+12C>T Single submitter
- c.77+16G>T Single submitter
- c.77+3G>T Single submitter
- c.77+7_77+15del Single submitter
- c.78-15C>G Single submitter
- c.78-5C>T Single submitter
- c.78-6C>A Single submitter
- c.78-6C>T Single submitter
- c.78-8C>T Single submitter
- c.96+12_96+31del Single submitter
- c.96+15A>G Single submitter
- c.96+7A>G Single submitter
- c.97-16G>C Single submitter
- c.97-17T>C Single submitter
- c.97-4C>T Single submitter
- p.Ala12= Single submitter
- p.Ala144= Single submitter
- p.Ala167Thr Single submitter
- p.Ala207= Single submitter
- p.Ala234= Single submitter
- p.Ala255= Single submitter
- p.Ala95= Single submitter
- p.Arg11= Single submitter
- p.Arg113= Single submitter
- p.Arg117= Single submitter
- p.Arg172Trp Single submitter ⚠
- p.Arg225= Single submitter
- p.Asn215= Single submitter
- p.Asn97= Single submitter
- p.Asp122= Single submitter
- p.Asp176Glu Single submitter
- p.Asp187= Single submitter
- p.Asp206= Single submitter
- p.Cys100= Single submitter
- p.Glu129= Single submitter
- p.Glu130= Single submitter
- p.Glu16= Single submitter
- p.Glu169Lys Single submitter ⚠
- p.Glu179= Single submitter
- p.Glu230= Single submitter
- p.Glu233= Single submitter
- p.Glu249= Single submitter
- p.Glu250= Single submitter
- p.Glu79= Single submitter
- p.Gly153= Single submitter
- p.Gly248= Single submitter
- p.Ile220= Single submitter
- p.Ile35= Single submitter
- p.Ile45= Single submitter
- p.Leu118= Single submitter
- p.Leu131= Single submitter
- p.Leu135= Single submitter
- p.Leu17= Single submitter
- p.Leu191= Single submitter
- p.Leu217= Single submitter
- p.Leu223= Single submitter
- p.Leu224= Single submitter
- p.Leu224dup Single submitter
- p.Leu227= Single submitter
- p.Leu232= Single submitter
- p.Leu243= Single submitter
- p.Leu47= Single submitter
- p.Leu64= Single submitter
- p.Leu77= Single submitter
- p.Leu83= Single submitter
- p.Leu9= Single submitter
- p.Leu94= Single submitter
- p.Lys120= Single submitter
- p.Lys13= Single submitter
- p.Lys2= Single submitter
- p.Lys6= Single submitter
- p.Pro116= Single submitter
- p.Pro174= Single submitter
- p.Pro193= Single submitter
- p.Pro40= Single submitter
- p.Pro87= Single submitter
- p.Pro98= Single submitter
- p.Ser15= Single submitter
- p.Ser163= Single submitter
- p.Ser166= Single submitter
- p.Ser183= Single submitter
- p.Ser201= Single submitter
- p.Ser208= Single submitter
- p.Ser53= Single submitter
- p.Ser59= Single submitter
- p.Thr10= Single submitter
- p.Thr110= Single submitter
- p.Thr142= Single submitter
- p.Thr160= Single submitter
- p.Thr218= Single submitter
- p.Thr238= Single submitter
- p.Thr54= Single submitter
- p.Val126= Single submitter
- p.Val216= Single submitter
- p.Val239= Single submitter
- p.Val91= Single submitter
- c.374-7C>T No assertion criteria CFAP410-related disorder
- c.642+150G>A No assertion criteria CFAP410-related disorder
- c.642+165G>A No assertion criteria CFAP410-related disorder
- c.642+210C>T No assertion criteria CFAP410-related disorder
- c.642+62CCGTGGGGAGGGAGCATGGAGCCTCACAGGGCC[4] No assertion criteria CFAP410-related disorder
- c.642+75G>A No assertion criteria CFAP410-related disorder
- c.643-170G>A No assertion criteria CFAP410-related disorder
- c.643-221T>G No assertion criteria CFAP410-related disorder
- c.643-33G>A No assertion criteria CFAP410-related disorder
- c.*4C>T No assertion criteria CFAP410-related disorder
- p.Pro57= No assertion criteria CFAP410-related disorder
- p.Thr150= No assertion criteria CFAP410-related disorder
Uncertain significance 173
- c.374-3A>T Multiple submitters
- p.Arg106Cys Multiple submitters CFAP410-related disorder ⚠
- p.Arg189Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg242Trp Multiple submitters ⚠
- p.Arg70Gln Multiple submitters inherited retinal dystrophy ⚠
- p.Arg90Pro Multiple submitters inherited retinal dystrophy ⚠
- p.Glu140del Multiple submitters CFAP410-related disorder
- p.Glu178Lys Multiple submitters Inborn genetic diseases ⚠
- p.Leu47Phe Multiple submitters Inborn genetic diseases ⚠
- p.Pro98Leu Multiple submitters retinal dystrophy with or without macular staphyloma ⚠
- p.Thr127Met Multiple submitters retinal dystrophy with or without macular staphyloma ⚠
- p.Thr182Ile Multiple submitters ⚠
- p.Trp26Arg Multiple submitters ⚠
- p.Val20Met Multiple submitters ⚠
- c.545+6G>A Single submitter
- c.545+7C>T Single submitter
- c.642+138dup Single submitter
- c.642+17_642+26dup Single submitter CFAP410-related disorder
- c.642+172_642+175del Single submitter retinal dystrophy with or without macular staphyloma
- c.642+194G>A Single submitter
- c.642+22G>A Single submitter amyotrophic lateral sclerosis
- c.642+95_642+127del Single submitter CFAP410-related disorder
- c.642+98T>C Single submitter
- c.642+98T>G Single submitter
- c.643-180G>A Single submitter CFAP410-related disorder
- c.77+6G>A Single submitter
- c.78-2A>G Single submitter
- c.96+2dup Single submitter
- c.96+4A>C Single submitter
- p.Ala125Pro Single submitter ⚠
- p.Ala143Val Single submitter ⚠
- p.Ala185Thr Single submitter ⚠
- p.Ala219Pro Single submitter ⚠
- p.Ala234Thr Single submitter ⚠
- p.Ala78Pro Single submitter ⚠
- p.Arg106His Single submitter inherited retinal dystrophy ⚠
- p.Arg108His Single submitter inherited retinal dystrophy ⚠
- p.Arg113Cys Single submitter ⚠
- p.Arg113His Single submitter ⚠
- p.Arg117Cys Single submitter ⚠
- p.Arg11Trp Single submitter ⚠
- p.Arg133Cys Single submitter ⚠
- p.Arg133His Single submitter ⚠
- p.Arg172Gln Single submitter ⚠
- p.Arg189His Single submitter ⚠
- p.Arg196Gln Single submitter ⚠
- p.Arg196Trp Single submitter ⚠
- p.Arg21His Single submitter ⚠
- p.Arg225Gln Single submitter ⚠
- p.Arg225Trp Single submitter ⚠
- p.Arg242Gln Single submitter ⚠
- p.Arg247Cys Single submitter ⚠
- p.Arg247Leu Single submitter ⚠
- p.Arg29Cys Single submitter ⚠
- p.Arg29His Single submitter ⚠
- p.Arg5Gln Single submitter ⚠
- p.Arg5Trp Single submitter ⚠
- p.Arg60Gln Single submitter ⚠
- p.Arg60Gly Single submitter ⚠
- p.Arg60Trp Single submitter ⚠
- p.Arg63Cys Single submitter ⚠
- p.Arg63His Single submitter ⚠
- p.Arg73Cys Single submitter ⚠
- p.Arg73Gly Single submitter ⚠
- p.Arg73His Single submitter ⚠
- p.Arg88Cys Single submitter ⚠
- p.Arg88His Single submitter ⚠
- p.Arg90Gln Single submitter ⚠
- p.Arg90Trp Single submitter ⚠
- p.Asn97Lys Single submitter retinal dystrophy with or without macular staphyloma ⚠
- p.Asp122Asn Single submitter cone-rod dystrophy ⚠
- p.Asp122His Single submitter ⚠
- p.Asp173Asn Single submitter ⚠
- p.Asp206Asn Single submitter ⚠
- p.Asp206Val Single submitter ⚠
- p.Asp228fs Single submitter
- p.Cys100Arg Single submitter ⚠
- p.Cys100Tyr Single submitter ⚠
- p.Cys36Tyr Single submitter ⚠
- p.Cys61Gly Single submitter ⚠
- p.Cys61Tyr Single submitter retinal dystrophy with or without macular staphyloma ⚠
- p.Gln236Trp Single submitter
- p.Gln237His Single submitter ⚠
- p.Gln237Pro Single submitter ⚠
- p.Gln244fs Single submitter
- p.Glu128Asp Single submitter ⚠
- p.Glu146Gln Single submitter ⚠
- p.Glu146Lys Single submitter ⚠
- p.Glu148Asp Single submitter ⚠
- p.Glu148Gln Single submitter ⚠
- p.Glu148Lys Single submitter ⚠
- p.Glu16Lys Single submitter ⚠
- p.Glu179Asp Single submitter ⚠
- p.Glu180Ala Single submitter ⚠
- p.Glu188Lys Single submitter inherited retinal dystrophy ⚠
- p.Glu233Gly Single submitter ⚠
- p.Glu256Lys Single submitter ⚠
- p.Glu38Gln Single submitter ⚠
- p.Glu96Gln Single submitter ⚠
- p.Gly101Ser Single submitter ⚠
- p.Gly138Arg Single submitter ⚠
- p.Gly149Ser Single submitter ⚠
- p.Gly151Cys Single submitter ⚠
- p.Gly154Arg Single submitter ⚠
- p.Gly184Ser Single submitter ⚠
- p.Gly197Ser Single submitter ⚠
- p.Gly27Ser Single submitter ⚠
- p.Gly85Arg Single submitter ⚠
- p.His254Arg Single submitter ⚠
- p.Ile33Thr Single submitter ⚠
- p.Ile33Val Single submitter ⚠
- p.Leu115Val Single submitter ⚠
- p.Leu118del Single submitter
- p.Leu135Pro Single submitter ⚠
- p.Leu164Pro Single submitter ⚠
- p.Leu175Pro Single submitter ⚠
- p.Leu17Pro Single submitter ⚠
- p.Leu217Pro Single submitter ⚠
- p.Leu47Pro Single submitter cone-rod dystrophy ⚠
- p.Leu80Val Single submitter ⚠
- p.Leu9Pro Single submitter ⚠
- p.Lys13Arg Single submitter ⚠
- p.Lys156Arg Single submitter ⚠
- p.Lys22Asn Single submitter ⚠
- p.Lys2Asn Single submitter ⚠
- p.Met1Ile Single submitter
- p.Met39Arg Single submitter ⚠
- p.Met39dup Single submitter
- p.Met39Thr Single submitter ⚠
- p.Met7del Single submitter retinal dystrophy with or without macular staphyloma
- p.Met7Ile Single submitter ⚠
- p.Met7Thr Single submitter ⚠
- p.Pro155His Single submitter ⚠
- p.Pro193Leu Single submitter ⚠
- p.Pro40Leu Single submitter ⚠
- p.Pro57Ser Single submitter ⚠
- p.Pro75Arg Single submitter ⚠
- p.Pro75Leu Single submitter inherited retinal dystrophy ⚠
- p.Pro87Leu Single submitter ⚠
- p.Ser132Phe Single submitter ⚠
- p.Ser136Arg Single submitter ⚠
- p.Ser166Phe Single submitter ⚠
- p.Ser177= Single submitter
- p.Ser19Thr Single submitter Inborn genetic diseases ⚠
- p.Ser201Cys Single submitter ⚠
- p.Ser208fs Single submitter
- p.Ser241fs Single submitter
- p.Ser41Arg Single submitter ⚠
- p.Ser65Asn Single submitter Inborn genetic diseases ⚠
- p.Thr114_Leu115insValLeuArgThr Single submitter retinal dystrophy with or without macular staphyloma
- p.Thr127Ala Single submitter ⚠
- p.Thr170Ala Single submitter ⚠
- p.Thr182Asn Single submitter ⚠
- p.Thr238Ile Single submitter ⚠
- p.Thr238Ser Single submitter ⚠
- p.Thr4Ala Single submitter ⚠
- p.Trp93Arg Single submitter ⚠
- p.Trp93Cys Single submitter ⚠
- p.Tyr82His Single submitter ⚠
- p.Tyr82Phe Single submitter ⚠
- p.Val20Leu Single submitter ⚠
- p.Val216Ile Single submitter ⚠
- p.Val235Met Single submitter ⚠
- p.Val251Gly Single submitter ⚠
- p.Val49Ile Single submitter ⚠
- p.Val8Phe Single submitter ⚠
- c.643-146G>A No assertion criteria inherited retinal dystrophy
- c.643-147C>T No assertion criteria CFAP410-related disorder
- c.643-223G>C No assertion criteria CFAP410-related disorder
- p.Cys100_Gly101delinsTrpAsnProCys No assertion criteria inherited retinal dystrophy
- p.Gly151Asp No assertion criteria CFAP410-related disorder ⚠
- p.Gly27Val No assertion criteria inherited retinal dystrophy ⚠
- p.Ser210Asn No assertion criteria inherited retinal dystrophy ⚠